Novel MSX1 Frameshift Causes Autosomal-dominant Oligodontia
作者： J-W Kim , JP Simmer , BP-J Lin , JC-C Hu , None
DOI: 10.1177/154405910608500312
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摘要: Can kindreds with tooth agenesis caused by MSX1 or PAX9 mutations be distinguished their phenotypes? We have identified an MSX1second bicuspids and mandibular central incisors. The dominant phenotype is apparently due to haploinsufficiency. analyzed patterns of partial in seven defined ten mutations. probability missing a particular type always bilaterally symmetrical, but differences exist between the maxilla mandible. MSX1-associated oligodontia typically includes maxillary second first bicuspids. most distinguishing feature frequent (75%) absence bicuspids, while PAX9-associated (> 80%) molars.
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